Editors: Lodewijk Bos, Rajeev K Bali, M Chris Gibbons and Simon Ibell
Orphan diseases are serious and rare disorders for which, given their rarity, medical research is very limited. They are diseases which have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. An orphan disease (usually a rare disease) has no universal definition with numbers often adjusted for the population sizes of countries (for example, orphan diseases are defined as affecting fewer than 7.5 cases per 10,000 individuals in the USA, fewer than 5 cases per 10,000 individuals in the EU and less than 6.5–10 in 10,000 from the WHO). It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. As a group, they have one thing in common: their rarity.
The text, part of Springer’s Communications in Medical and Care Compunetics series, will focus on various factors associated with orphan diseases and the influence/role of health information technologies. It will highlight the opportunities and challenges in this increasingly important area. We would also like to see chapters on experience from patients and their caregivers. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.
Suggested topics as applied to orphan diseases include, but are not limited to:
- electronic health records
- data mining
- role of new social media
- genomics and biotechnology
- innovative therapies
- patient empowerment and advocacy
- patient-clinician liaison
- economic effects of orphan/rare diseases
- knowledge and information management
- combating inequalities and disparities
Submission of abstract/chapter proposal: 1 February 2013
Authors of accepted proposals notified and sent chapter guidelines: 14 February 2013
Full submission of chapter: 2 November 2013
Please email abstracts and proposals to firstname.lastname@example.org at your earliest convenience but not later than 1 February 2013. If you are unsure as to whether your chapter is relevant to this book, please send a short abstract for our evaluation.
Full chapters will be peer-reviewed.
Full chapters can be uploaded at:
For more information download the Call Orphan Diseases.